Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1569541207
rs1569541207
ABCD1
1 1.000 0.160 X 153743506 frameshift variant -/G delins 0.700 0
dbSNP: rs193922093
rs193922093
ABCD1
1 1.000 0.160 X 153736484 frameshift variant -/C delins 0.700 0
dbSNP: rs193922094
rs193922094
ABCD1
1 1.000 0.160 X 153740195 missense variant T/C snv 0.700 0
dbSNP: rs387906495
rs387906495
ABCD1
1 1.000 0.160 X 153740154 frameshift variant C/- delins 0.700 0
dbSNP: rs387906496
rs387906496
ABCD1 ; BCAP31
1 1.000 0.160 X 153726136 inframe deletion GAG/- delins 0.700 0
dbSNP: rs387906497
rs387906497
ABCD1 ; BCAP31
1 1.000 0.160 X 153725249 start lost AGCCAGCCCAGGTGACATGCCGGTGC/- delins 0.700 0
dbSNP: rs398123108
rs398123108
ABCD1
3 0.925 0.200 X 153743211 intron variant G/A;T snv 0.700 0
dbSNP: rs398123110
rs398123110
ABCD1 ; BCAP31
1 1.000 0.160 X 153725612 missense variant G/A snv 0.700 0
dbSNP: rs727503786
rs727503786
ABCD1
6 0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs782083931
rs782083931
ABCD1 ; BCAP31
1 1.000 0.160 X 153726089 missense variant C/T snv 7.4E-06 0.700 0
dbSNP: rs782266592
rs782266592
ABCD1
1 1.000 0.160 X 153736156 stop gained G/C;T snv 2.7E-05 2.8E-05 0.700 0
dbSNP: rs78993751
rs78993751
ABCD1
1 1.000 0.160 X 153743029 missense variant G/A snv 0.700 0
dbSNP: rs797044726
rs797044726
ABCD1
1 1.000 0.160 X 153736408 stop gained C/T snv 0.700 0
dbSNP: rs864309520
rs864309520
ABCD1 ; BCAP31
2 1.000 0.160 X 153725917 missense variant G/C snv 0.700 0
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.090 1.000 9 2011 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2007 2010
dbSNP: rs111966833
rs111966833
SPINK1
8 0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03 0.010 1.000 1 2003 2003
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1411452933
rs1411452933
AKR1D1
1 1.000 0.160 7 138106690 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2003 2003
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2012 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs2108622
rs2108622
CYP4F2
20 0.742 0.280 19 15879621 missense variant C/T snv 0.27 0.22 0.010 1.000 1 2016 2016
dbSNP: rs2228603
rs2228603
NCAN
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2004 2004